Canonical Allele Identifier: CA447677009

Gene: NIPAL4 ADAM19

Linked Data

• gnomAD v4: 5-157463212-G-A
• MyVariant Identifiers: chr5:g.156890220G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157463212G>A , CM000667.2:g.157463212G>A	GRCh38
NC_000005.9:g.156890220G>A , CM000667.1:g.156890220G>A	GRCh37
NC_000005.8:g.156822798G>A	NCBI36
NG_016626.1:g.8194G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311946.8:c.156G>A (NIPAL4) MANE Select	ENSP00000311687.8:p.Gln52=
ENST00000435489.7:c.156G>A (NIPAL4)	ENSP00000406456.3:p.Gln52=
ENST00000311946.7:c.342G>A (NIPAL4)	ENSP00000311687.7:p.Gln114=
ENST00000435489.6:c.342G>A (NIPAL4)	ENSP00000406456.2:p.Gln114=
ENST00000517951.5:c.*1741+25053C>T (ADAM19)	ENSP00000428376.1:n.*1741+25053C>T
ENST00000519150.1:c.254G>A (NIPAL4)	ENSP00000430810.1:p.Arg85Lys
ENST00000519946.1:n.370G>A (NIPAL4)
ENST00000521390.5:n.261G>A (NIPAL4)
NM_001099287.1:c.342G>A (NIPAL4)	NP_001092757.1:p.Gln114=
NM_001172292.1:c.342G>A (NIPAL4)	NP_001165763.1:p.Gln114=
XM_011534552.1:c.-154G>A (NIPAL4)	XP_011532854.1:n.-154G>A
XM_024446043.1:c.-301G>A (NIPAL4)	XP_024301811.1:n.-301G>A
NM_001099287.2:c.156G>A (NIPAL4) MANE Select	NP_001092757.2:p.Gln52=